Please use this identifier to cite or link to this item: https://doi.org/10.1016/j.gene.2012.12.082
Title: De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability
Authors: Brett, M.S.
Ng, I.S.L.
Lim, E.C.P.
Yong, M.H.
Li, Z.
Lai, A.
Tan, E.-C. 
Keywords: 3q deletion
Array CGH
Cleft palate
Growth retardation
Intellectual disability
Issue Date: 15-Mar-2013
Citation: Brett, M.S., Ng, I.S.L., Lim, E.C.P., Yong, M.H., Li, Z., Lai, A., Tan, E.-C. (2013-03-15). De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability. Gene 517 (1) : 82-88. ScholarBank@NUS Repository. https://doi.org/10.1016/j.gene.2012.12.082
Abstract: We describe a boy with a de novo deletion of 15.67. Mb spanning 3q22.1q24. He has bilateral micropthalmia, ptosis, cleft palate, global developmental delay and brain, skeletal and cardiac abnormalities. In addition, he has bilateral inguinal hernia and his right kidney is absent. We compare his phenotype with seven other patients with overlapping and molecularly defined interstitial 3q deletions. This patient has some phenotypic features that are not shared by the other patients. More cases with smaller deletions defined by high resolution aCGH will enable better genotype-phenotype correlations and prioritizing of candidate genes for the identification of pathways and disease mechanisms. © 2012 Elsevier B.V.
Source Title: Gene
URI: http://scholarbank.nus.edu.sg/handle/10635/109282
ISSN: 03781119
DOI: 10.1016/j.gene.2012.12.082
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